ClinVar Miner

Variants from Myriad Genetics, Inc.

Location: United States  Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
10306 7124 1138 7668 19655 45890

Gene and significance breakdown #

Total genes and gene combinations: 398
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
APC 1270 82 146 287 1859 3644
ATM 791 188 2 563 1215 2759
MSH6 934 111 93 304 1305 2747
TSC2 12 9 0 725 1475 2221
MSH2 720 189 55 391 788 2143
PALB2 712 81 57 274 788 1912
MLH1 639 154 27 315 599 1734
ATM, C11orf65 448 164 2 366 643 1622
BRIP1 422 79 100 231 714 1546
PMS2 333 113 69 232 757 1504
CDH1 222 78 85 279 674 1338
BARD1 303 63 16 199 594 1175
CHEK2 326 139 65 220 341 1091
TP53 165 259 39 131 293 887
AXIN2 47 5 0 145 652 849
PTEN 309 119 12 120 262 822
TSC1 22 9 0 242 516 789
SDHA 79 47 30 156 397 709
MET 0 1 0 172 529 702
STK11 33 12 40 140 437 662
CTNNA1 65 12 0 147 391 615
BAP1 59 15 0 181 348 603
RAD51C 92 96 12 123 257 580
SMAD4 41 13 15 127 373 569
BMPR1A 57 14 17 139 337 564
FLCN 66 17 0 172 300 555
RAD51D, RAD51L3-RFFL 79 52 12 145 259 547
BRCA2 308 20 0 114 25 467
MEN1 26 10 2 87 305 430
FH 49 45 1 84 222 401
RET 24 6 20 114 226 390
POLD1 0 3 6 124 237 370
CDKN2A 32 30 16 27 222 327
MSH3 233 58 0 2 0 293
POLE 0 0 13 95 161 269
BRCA1 116 25 4 96 22 263
HOXB13 0 0 0 17 231 248
SDHB 40 21 5 53 115 234
DNAH5 4 191 0 0 0 195
CDK4 0 0 2 45 127 174
NEB 6 167 0 0 0 173
SDHC 21 10 4 45 91 171
LAMA2 6 161 3 0 0 170
EGFR 0 1 0 47 102 150
VHL 11 7 0 34 98 150
PKHD1 8 116 2 0 0 126
CFTR 59 66 0 0 0 125
LOC107303340, VHL 11 5 1 29 75 121
USH2A 26 75 13 0 0 114
CDK4, TSPAN31 0 0 3 26 81 110
MYO7A 6 95 6 0 0 107
SDHD 9 2 0 27 66 104
DYSF 7 91 3 0 0 101
ZFYVE26 1 99 1 0 0 101
COL4A3, MFF-DT 2 85 2 0 0 89
COL4A4 3 84 1 0 0 88
NTHL1 73 14 0 1 0 88
AGL 2 74 0 0 0 76
COL4A5 2 73 0 0 0 75
ATP7B 11 56 6 0 0 73
CPS1 1 68 1 0 0 70
GNPTAB 3 66 0 0 0 69
NPC1 4 62 2 0 0 68
DMD 7 60 0 0 0 67
GLDC 1 61 3 0 0 65
ATP7A 0 61 0 0 0 61
LAMB3 5 54 0 0 0 59
LRPPRC 0 58 0 0 0 58
LOC130062899, STK11 3 0 3 7 44 57
ALMS1 0 56 0 0 0 56
ERCC6 2 53 0 0 0 55
PCDH15 4 44 5 0 0 53
ELP1 3 48 0 0 0 51
MAN2B1 3 48 0 0 0 51
MTTP 1 50 0 0 0 51
PAH 23 28 0 0 0 51
SLC26A4 14 27 9 0 0 50
ABCC8 4 37 6 0 0 47
FANCA 8 39 0 0 0 47
GAA 13 30 3 0 0 46
BLM 33 7 0 2 3 45
EVC 1 43 0 0 0 44
HEXA 9 34 1 0 0 44
SACS 19 25 0 0 0 44
VPS13B 11 31 1 0 0 43
EVC2 3 38 1 0 0 42
LAMC2 1 41 0 0 0 42
LOC129390903, RAD51C 14 7 0 6 15 42
PEX1 3 37 1 0 0 41
RNF43 33 6 0 0 2 41
BBS2 2 36 2 0 0 40
HLCS 0 39 1 0 0 40
ACADVL 7 24 8 0 0 39
PC 0 39 0 0 0 39
NPHS1 4 30 3 0 0 37
MMUT 1 34 1 0 0 36
F8 16 19 0 0 0 35
LOXHD1 7 27 1 0 0 35
NEB, RIF1 0 35 0 0 0 35
GALT 5 28 1 0 0 34
CAPN3 9 22 2 0 0 33
MUTYH 16 16 0 1 0 33
BRCA1, LOC126862571 16 0 0 14 2 32
MPL 0 32 0 0 0 32
SLC12A6 2 30 0 0 0 32
HPS3 1 28 0 0 0 29
CDK4, LOC130008148 0 0 1 2 25 28
GALC 5 22 1 0 0 28
GJB2 16 7 5 0 0 28
HSD17B4 0 27 1 0 0 28
ASL 4 22 1 0 0 27
HGSNAT 5 20 2 0 0 27
IDUA 4 23 0 0 0 27
PMM2 8 18 1 0 0 27
TGM1 4 21 2 0 0 27
CBS 4 20 2 0 0 26
DHCR7 8 18 0 0 0 26
GNE 7 19 0 0 0 26
HEXB 1 25 0 0 0 26
LOC129933707, MSH6 2 4 1 8 10 25
PFKM 1 24 0 0 0 25
MLH3 22 2 0 0 0 24
PCCA 1 22 1 0 0 24
ADAMTS2 1 22 0 0 0 23
DBT 1 22 0 0 0 23
MTM1 0 23 0 0 0 23
USH1C 3 18 2 0 0 23
AGXT 3 18 1 0 0 22
ARSA 7 15 0 0 0 22
CYP27A1 5 17 0 0 0 22
LOC126861339, SDHD 5 0 0 3 14 22
PEX6 2 20 0 0 0 22
AIRE 5 16 0 0 0 21
ALDH3A2 2 19 0 0 0 21
BCKDHA 2 18 1 0 0 21
CNGB3 1 18 2 0 0 21
DLD 3 18 0 0 0 21
HBB, LOC106099062, LOC107133510 16 5 0 0 0 21
NBN 0 21 0 0 0 21
LIPA 6 14 0 0 0 20
SLC22A5 5 13 2 0 0 20
BCKDHB 2 16 1 0 0 19
CPT1A 3 16 0 0 0 19
F11 1 16 2 0 0 19
GALK1 2 16 1 0 0 19
MKS1 1 18 0 0 0 19
TPP1 4 15 0 0 0 19
ACADM 4 14 0 0 0 18
ALPL 4 13 1 0 0 18
CYP11B1, LOC106799833 0 17 1 0 0 18
GLB1 1 17 0 0 0 18
POMGNT1, TSPAN1 4 14 0 0 0 18
SMPD1 5 9 4 0 0 18
ALG6 0 16 1 0 0 17
COL7A1 10 7 0 0 0 17
TCIRG1 4 12 1 0 0 17
TH 1 16 0 0 0 17
ADA 2 14 0 0 0 16
EYS 10 6 0 0 0 16
FAH 6 10 0 0 0 16
IVD 3 12 1 0 0 16
MLC1 1 15 0 0 0 16
NF1 13 3 0 0 0 16
PEX7 3 13 0 0 0 16
PKD1, TSC2 0 0 0 4 12 16
STAR 1 15 0 0 0 16
TYR 5 11 0 0 0 16
ALDOB 3 9 3 0 0 15
CEP290 15 0 0 0 0 15
CTSK 1 14 0 0 0 15
GCDH 6 9 0 0 0 15
HADHA 0 15 0 0 0 15
ASS1 2 11 1 0 0 14
BTD 7 6 1 0 0 14
DYNC2H1 7 7 0 0 0 14
ERCC8 1 13 0 0 0 14
FKTN 1 13 0 0 0 14
GATAD1, PEX1 0 14 0 0 0 14
HMGCL 3 9 2 0 0 14
BBS1, ZDHHC24 1 11 1 0 0 13
BCS1L 4 8 1 0 0 13
GRHPR 1 12 0 0 0 13
HGD 3 10 0 0 0 13
NPC2 0 13 0 0 0 13
NPHS2 3 9 1 0 0 13
SLC17A5 1 12 0 0 0 13
CFTR, LOC111674475 9 3 0 0 0 12
G6PC1 7 5 0 0 0 12
GAREM2, HADHA 2 10 0 0 0 12
LOC122152296, USH2A 0 11 1 0 0 12
MBD4 10 2 0 0 0 12
MCOLN1 1 11 0 0 0 12
MMAA 1 11 0 0 0 12
MMAB 9 3 0 0 0 12
SGCA 3 8 1 0 0 12
SGSH 2 9 1 0 0 12
AOPEP, FANCC 1 10 0 0 0 11
ARG1, MED23 2 9 0 0 0 11
DHFR, MSH3 9 0 0 0 2 11
FANCC 2 9 0 0 0 11
KIRREL2, NPHS1 1 8 2 0 0 11
NAGLU 2 9 0 0 0 11
OTC 3 8 0 0 0 11
PCCB 1 10 0 0 0 11
ACADS 1 9 0 0 0 10
ASPA, SPATA22 4 6 0 0 0 10
CDK4, MIR6759, TSPAN31 0 0 0 10 0 10
CFTR, LOC111674472 7 3 0 0 0 10
CLN3 0 9 1 0 0 10
CTNS 3 7 0 0 0 10
LOC129929542, SDHB 2 0 0 4 4 10
BBS10 5 1 3 0 0 9
CDKN2A, LOC130001603 0 0 3 1 5 9
CHM 2 7 0 0 0 9
LOC130061310, RAD51C 0 5 0 4 0 9
PPT1 4 5 0 0 0 9
BBS1 0 7 1 0 0 8
CPT2 5 2 1 0 0 8
ERCC2 3 5 0 0 0 8
ERCC6, PGBD3 0 8 0 0 0 8
GNPTG 0 7 1 0 0 8
LOC126807437, MSH3 8 0 0 0 0 8
LOC126859690, PKHD1 1 7 0 0 0 8
MMACHC 1 6 1 0 0 8
PEX10 2 6 0 0 0 8
POMGNT1 0 8 0 0 0 8
PRF1 4 4 0 0 0 8
CLN6 1 6 0 0 0 7
DNAH5, LOC126807318 0 7 0 0 0 7
GBA1, LOC106627981 4 3 0 0 0 7
IDS, LOC106050102 0 7 0 0 0 7
LAMA3 2 5 0 0 0 7
NR2E3 5 2 0 0 0 7
NTRK1 6 1 0 0 0 7
POLG 1 6 0 0 0 7
RPE65 4 3 0 0 0 7
SLC26A2 5 2 0 0 0 7
SLC37A4 5 2 0 0 0 7
TAT 0 7 0 0 0 7
TNXB 7 0 0 0 0 7
ABCD1 1 5 0 0 0 6
CDKL5, RS1 4 2 0 0 0 6
CLRN1 5 0 1 0 0 6
CP, HPS3 0 6 0 0 0 6
CYP21A2, LOC106780800 6 0 0 0 0 6
EVC, LOC129992144 0 6 0 0 0 6
EVC2, LOC126806961 0 6 0 0 0 6
F9 1 5 0 0 0 6
GBE1 3 3 0 0 0 6
GLA, RPL36A-HNRNPH2 1 5 0 0 0 6
IL2RG 0 6 0 0 0 6
MVK 2 4 0 0 0 6
PHYH 0 6 0 0 0 6
PYGM 1 5 0 0 0 6
SEPSECS 4 2 0 0 0 6
SGCG 0 5 1 0 0 6
TTPA 3 3 0 0 0 6
XPC 2 3 1 0 0 6
ACAT1 1 4 0 0 0 5
ADA, LOC107303343 0 5 0 0 0 5
AGA 2 3 0 0 0 5
BCHE 1 4 0 0 0 5
CERKL 4 1 0 0 0 5
CLN5 4 1 0 0 0 5
CLN8 2 2 1 0 0 5
CYP27B1 1 4 0 0 0 5
EYS, PHF3 3 2 0 0 0 5
FAM161A 5 0 0 0 0 5
FANCA, ZNF276 4 1 0 0 0 5
FKRP 3 2 0 0 0 5
HBB, LOC107133510, LOC110006319 4 1 0 0 0 5
HOGA1 2 3 0 0 0 5
IDUA, SLC26A1 1 4 0 0 0 5
LOC123956210, SLC26A4 1 3 1 0 0 5
LOC130003710, RET 0 0 0 3 2 5
MCCC2 2 3 0 0 0 5
OCA2 3 2 0 0 0 5
SMARCA4 2 0 0 1 2 5
SUMF1 0 5 0 0 0 5
ABCD1, PLXNB3 1 3 0 0 0 4
AMT 2 2 0 0 0 4
ATP6V1B1 2 2 0 0 0 4
AXDND1, NPHS2 3 1 0 0 0 4
C17orf107, CHRNE 2 2 0 0 0 4
CHRNE 2 2 0 0 0 4
DPYD 2 2 0 0 0 4
ERCC6, LOC126860933 0 4 0 0 0 4
FANCA, LOC112486223 2 2 0 0 0 4
GALT, LOC130001683 0 3 1 0 0 4
GCDH, LOC117125594 0 4 0 0 0 4
IDS 1 3 0 0 0 4
LAMA2, LOC123864065 0 4 0 0 0 4
MTHFR 2 2 0 0 0 4
OAT 2 2 0 0 0 4
RNASEH2B 2 2 0 0 0 4
SGCB 1 3 0 0 0 4
TYMP 4 0 0 0 0 4
XPA 2 2 0 0 0 4
ABCA3 0 3 0 0 0 3
ANO10 3 0 0 0 0 3
CC2D2A 1 2 0 0 0 3
CEP290, RLIG1 3 0 0 0 0 3
CYBA 0 3 0 0 0 3
FBXO11, MSH6 1 0 0 2 0 3
GCDH, LOC126862860, SYCE2 2 1 0 0 0 3
HPS1 2 1 0 0 0 3
LOC126861615, PAH 2 1 0 0 0 3
LOC129391064, MAN2B1 0 3 0 0 0 3
LOC129929541, SDHB 0 0 0 2 1 3
MEFV 2 1 0 0 0 3
PEX12 3 0 0 0 0 3
PROP1 2 1 0 0 0 3
RB1 0 0 0 0 3 3
SERPINA1 1 2 0 0 0 3
SGCD 2 1 0 0 0 3
ACADVL, DVL2 0 2 0 0 0 2
AHI1 1 1 0 0 0 2
ALMS1, LOC126806252 0 2 0 0 0 2
APBB1, SMPD1 2 0 0 0 0 2
ARG1 0 2 0 0 0 2
ASNS, CZ1P-ASNS 0 2 0 0 0 2
BBS12 2 0 0 0 0 2
CHRNE, LOC130060041 1 1 0 0 0 2
CPT2, LOC129930561 0 2 0 0 0 2
CYP21A2, LOC106780800, TNXB 2 0 0 0 0 2
FANCA, LOC130059837 1 1 0 0 0 2
FANCA, LOC132090450 1 0 1 0 0 2
FMO3 0 2 0 0 0 2
GBA1 2 0 0 0 0 2
GNPTG, LOC130058158 0 2 0 0 0 2
HFE 2 0 0 0 0 2
KCNJ11 1 1 0 0 0 2
LOC111413029, TAT 0 2 0 0 0 2
LOC125446261, MLC1 0 1 1 0 0 2
LOC126862264, MEFV 2 0 0 0 0 2
LOC129992585, SGCB 1 1 0 0 0 2
LOC130063648, MAN2B1 0 2 0 0 0 2
LOC130067862, SCO2, TYMP 2 0 0 0 0 2
LOC132090059, PUS1 0 2 0 0 0 2
MESP2 1 1 0 0 0 2
RAG2 2 0 0 0 0 2
RAPSN 1 1 0 0 0 2
RTEL1, RTEL1-TNFRSF6B 2 0 0 0 0 2
SLC19A3 2 0 0 0 0 2
VPS13A 1 1 0 0 0 2
ABCC8, LOC110121471 0 1 0 0 0 1
ACYP1, NPC2 0 0 1 0 0 1
AMT, NICN1 0 0 1 0 0 1
ARX 1 0 0 0 0 1
BAP1, DNAH1 1 0 0 0 0 1
BRCA1, LOC111589215 0 0 0 1 0 1
CAPN3, LOC130056921 0 1 0 0 0 1
CARD14, SGSH 1 0 0 0 0 1
CC2D2A, FBXL5 0 1 0 0 0 1
CCDC107, RMRP 1 0 0 0 0 1
CFTR, LOC113633877 1 0 0 0 0 1
CFTR, LOC113664106 1 0 0 0 0 1
COL4A3, COL4A4, LOC129935730 1 0 0 0 0 1
DCTN5, PALB2 1 0 0 0 0 1
DDX25, HYLS1, PUS3 1 0 0 0 0 1
DHDDS 1 0 0 0 0 1
DNAH5, LOC107457585 0 1 0 0 0 1
DNAI2 1 0 0 0 0 1
ERCC8, NDUFAF2 1 0 0 0 0 1
HBA1, HBA2, LOC106804612 1 0 0 0 0 1
HBB, LOC106099062, LOC107133510, LOC110006319 1 0 0 0 0 1
HSD17B4, LOC129994460 0 1 0 0 0 1
LOC126806373, NEB 0 1 0 0 0 1
LOC126860438, NBN 0 1 0 0 0 1
LOC126862097, SLC12A6 0 1 0 0 0 1
LOC129930446, MMACHC 0 1 0 0 0 1
LOC129936056, SUMF1 1 0 0 0 0 1
LOC129998796, PEX1 0 1 0 0 0 1
LOC130009366, SACS 0 1 0 0 0 1
LOC130060903, NAGLU 0 1 0 0 0 1
LOC130061900, SGSH 0 1 0 0 0 1
LOC130063376, MCOLN1 0 1 0 0 0 1
LOC130067864, TYMP 1 0 0 0 0 1
LOC132089454, SLC17A5 0 1 0 0 0 1
LRP2 0 1 0 0 0 1
MCPH1 0 1 0 0 0 1
MIR6753, TCIRG1 0 1 0 0 0 1
NCAPH2, SCO2 1 0 0 0 0 1
NDUFS4 0 1 0 0 0 1
NTHL1, TSC2 1 0 0 0 0 1
OPA3 1 0 0 0 0 1
PEX2 1 0 0 0 0 1
PHGDH 0 1 0 0 0 1
POLG, POLGARF 1 0 0 0 0 1
PTS 0 1 0 0 0 1
RPGR 1 0 0 0 0 1
RS1 0 1 0 0 0 1
SGSH, SLC26A11 1 0 0 0 0 1
TECPR2 1 0 0 0 0 1
TMEM216 1 0 0 0 0 1
TRMU 0 1 0 0 0 1
VRK1 0 1 0 0 0 1
VSX2 1 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 322
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Familial cancer of breast 3001 711 241 1853 4295 10101
Familial adenomatous polyposis 1 1270 82 146 287 1859 3644
Lynch syndrome 5 937 115 94 314 1315 2775
Tuberous sclerosis 2 12 9 0 729 1487 2237
Lynch syndrome 1 720 189 55 391 788 2143
Hereditary diffuse gastric adenocarcinoma 287 90 85 426 1065 1953
Colorectal cancer, hereditary nonpolyposis, type 2 639 154 27 315 599 1734
Lynch syndrome 4 333 113 69 232 757 1504
Li-Fraumeni syndrome 1 165 259 39 131 293 887
Oligodontia-cancer predisposition syndrome 47 5 0 145 652 849
Cowden syndrome 1 309 119 12 120 262 822
Tuberous sclerosis 1 22 9 0 242 516 789
Peutz-Jeghers syndrome 36 12 43 147 481 719
Pheochromocytoma/paraganglioma syndrome 5 79 47 30 156 397 709
Papillary renal cell carcinoma type 1 0 1 0 172 529 702
Breast-ovarian cancer, familial, susceptibility to, 3 106 108 12 133 272 631
BAP1-related tumor predisposition syndrome 60 15 0 181 348 604
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 41 13 15 127 373 569
Juvenile polyposis syndrome 57 14 17 139 337 564
Breast-ovarian cancer, familial, susceptibility to, 4 79 52 12 145 259 547
Birt-Hogg-Dube syndrome 1 22 6 0 171 297 496
Breast-ovarian cancer, familial, susceptibility to, 2 308 20 0 114 25 467
Multiple endocrine neoplasia, type 1 26 10 2 87 305 430
Hereditary leiomyomatosis and renal cell cancer 49 45 1 84 222 401
Multiple endocrine neoplasia type 2A 23 6 20 117 228 394
Colorectal cancer, susceptibility to, 10 0 3 6 124 237 370
Melanoma-pancreatic cancer syndrome 32 30 19 28 227 336
Melanoma, cutaneous malignant, susceptibility to, 3 0 0 6 83 233 322
Familial adenomatous polyposis 4 250 58 0 2 2 312
Breast-ovarian cancer, familial, susceptibility to, 1 132 25 4 111 24 296
Von Hippel-Lindau syndrome 22 12 1 63 173 271
Colorectal cancer, susceptibility to, 12 0 0 13 95 161 269
Prostate cancer, hereditary, 9 0 0 0 17 231 248
Pheochromocytoma/paraganglioma syndrome 4 42 21 5 59 120 247
Nemaline myopathy 2 6 203 0 0 0 209
Primary ciliary dyskinesia 3 4 199 0 0 0 203
LAMA2-related muscular dystrophy 6 165 3 0 0 174
Pheochromocytoma/paraganglioma syndrome 3 21 10 4 45 91 171
Autosomal recessive Alport syndrome 1 150 3 0 0 154
Lung cancer 0 1 0 47 102 150
Cystic fibrosis 77 72 0 0 0 149
Polycystic kidney disease 4 3 123 2 0 0 128
Pheochromocytoma/paraganglioma syndrome 1 14 2 0 30 80 126
Usher syndrome type 1 6 95 6 0 0 107
Autosomal recessive limb-girdle muscular dystrophy 7 91 3 0 0 101
Hereditary spastic paraplegia 15 1 99 1 0 0 101
Ellis-van Creveld syndrome 4 93 1 0 0 98
Usher syndrome type 2A 7 72 14 0 0 93
Familial adenomatous polyposis 3 74 14 0 1 0 89
Glycogen storage disease type III 2 74 0 0 0 76
X-linked Alport syndrome 2 73 0 0 0 75
Wilson disease 11 56 6 0 0 73
Congenital hyperammonemia, type I 1 68 1 0 0 70
GNPTAB-mucolipidosis 2 66 0 0 0 68
Niemann-Pick disease, type C1 4 62 2 0 0 68
Progressive muscular dystrophy 7 60 0 0 0 67
Junctional epidermolysis bullosa gravis of Herlitz 4 62 0 0 0 66
Peroxisome biogenesis disorder 7 58 1 0 0 66
Cockayne syndrome type 2 0 65 0 0 0 65
Glycine encephalopathy 2 56 4 0 0 62
Menkes kinky-hair syndrome 0 61 0 0 0 61
Fanconi anemia complementation group A 16 43 1 0 0 60
Birt-Hogg-Dube syndrome 44 11 0 1 3 59
Alstrom syndrome 0 58 0 0 0 58
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 0 58 0 0 0 58
Deficiency of alpha-mannosidase 3 53 0 0 0 56
Maple syrup urine disease 3 50 2 0 0 55
Pendred syndrome 15 30 10 0 0 55
Phenylketonuria 25 29 0 0 0 54
Abetalipoproteinaemia 1 50 0 0 0 51
Familial dysautonomia 3 48 0 0 0 51
Finnish congenital nephrotic syndrome 5 38 5 0 0 48
Hyperinsulinemic hypoglycemia, familial, 1 4 38 6 0 0 48
Usher syndrome type 1D 1 41 5 0 0 47
Glycogen storage disease, type II 13 30 3 0 0 46
Bloom syndrome 33 7 0 2 3 45
Charlevoix-Saguenay spastic ataxia 19 26 0 0 0 45
Tay-Sachs disease 9 34 1 0 0 44
Cohen syndrome 11 31 1 0 0 43
Junctional epidermolysis bullosa 4 38 0 0 0 42
Sessile serrated polyposis cancer syndrome 33 6 0 0 2 41
Very long chain acyl-CoA dehydrogenase deficiency 7 26 8 0 0 41
Holocarboxylase synthetase deficiency 0 39 1 0 0 40
Pyruvate carboxylase deficiency 0 39 0 0 0 39
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 5 31 2 0 0 38
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 1 34 1 0 0 36
Autosomal recessive nonsyndromic hearing loss 77 7 27 1 0 0 35
Hereditary factor VIII deficiency disease 16 19 0 0 0 35
Hermansky-Pudlak syndrome 3 1 34 0 0 0 35
Propionic acidemia 2 32 1 0 0 35
Autosomal recessive limb-girdle muscular dystrophy type 2A 9 23 2 0 0 34
Bardet-Biedl syndrome 2 2 30 2 0 0 34
Agenesis of the corpus callosum with peripheral neuropathy 2 31 0 0 0 33
Familial adenomatous polyposis 2 16 16 0 1 0 33
USH2A-related disorder 19 14 0 0 0 33
Congenital amegakaryocytic thrombocytopenia 0 31 0 0 0 31
Bifunctional peroxisomal enzyme deficiency 0 28 1 0 0 29
Galactosylceramide beta-galactosidase deficiency 5 22 1 0 0 28
Argininosuccinate lyase deficiency 4 22 1 0 0 27
Autosomal recessive congenital ichthyosis 1 4 21 2 0 0 27
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2 25 0 0 0 27
Mucopolysaccharidosis, MPS-III-C 5 20 2 0 0 27
PMM2-congenital disorder of glycosylation 8 18 1 0 0 27
beta Thalassemia 21 6 0 0 0 27
Classic homocystinuria 4 20 2 0 0 26
GNE myopathy 7 19 0 0 0 26
Sandhoff disease 1 25 0 0 0 26
Smith-Lemli-Opitz syndrome 8 18 0 0 0 26
Glycogen storage disease, type VII 1 24 0 0 0 25
Mucopolysaccharidosis, MPS-I-H/S 1 24 0 0 0 25
Alport syndrome 5 19 0 0 0 24
Colorectal cancer, hereditary nonpolyposis, type 7 22 2 0 0 0 24
Ehlers-Danlos syndrome, dermatosparaxis type 1 22 0 0 0 23
Severe X-linked myotubular myopathy 0 23 0 0 0 23
Usher syndrome type 1C 3 18 2 0 0 23
Cholestanol storage disease 5 17 0 0 0 22
Fanconi anemia complementation group C 3 19 0 0 0 22
Glutaric aciduria, type 1 8 14 0 0 0 22
Metachromatic leukodystrophy 7 15 0 0 0 22
Microcephaly, normal intelligence and immunodeficiency 0 22 0 0 0 22
Primary hyperoxaluria, type I 3 18 1 0 0 22
Achromatopsia 3 1 18 2 0 0 21
Autosomal recessive nonsyndromic hearing loss 1A 15 1 5 0 0 21
Bardet-Biedl syndrome 1 1 18 2 0 0 21
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 2 19 0 0 0 21
Polyglandular autoimmune syndrome, type 1 5 16 0 0 0 21
Pyruvate dehydrogenase E3 deficiency 3 18 0 0 0 21
Retinitis pigmentosa 25 13 8 0 0 0 21
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2 19 0 0 0 21
Sjögren-Larsson syndrome 2 19 0 0 0 21
Lysosomal acid lipase deficiency 6 14 0 0 0 20
Peroxisome biogenesis disorder 4A (Zellweger) 0 20 0 0 0 20
Renal carnitine transport defect 5 13 2 0 0 20
Carnitine palmitoyl transferase 1A deficiency 3 16 0 0 0 19
Deficiency of galactokinase 2 16 1 0 0 19
Hereditary factor XI deficiency disease 1 16 2 0 0 19
Neuronal ceroid lipofuscinosis 2 4 15 0 0 0 19
Autosomal recessive osteopetrosis 1 4 13 1 0 0 18
CEP290-related ciliopathy 18 0 0 0 0 18
Ciliopathy 0 18 0 0 0 18
Deficiency of steroid 11-beta-monooxygenase 0 17 1 0 0 18
GLB1-related disorder 1 17 0 0 0 18
Medium-chain acyl-coenzyme A dehydrogenase deficiency 4 14 0 0 0 18
Megalencephalic leukoencephalopathy with subcortical cysts 1 1 16 1 0 0 18
ALG6-congenital disorder of glycosylation 1C 0 16 1 0 0 17
Autosomal recessive DOPA responsive dystonia 1 16 0 0 0 17
Nephrotic syndrome, type 2 6 10 1 0 0 17
Recessive dystrophic epidermolysis bullosa 10 7 0 0 0 17
Acid sphingomyelinase deficiency 3 9 4 0 0 16
Congenital lipoid adrenal hyperplasia due to STAR deficency 1 15 0 0 0 16
Isovaleryl-CoA dehydrogenase deficiency 3 12 1 0 0 16
Neurofibromatosis, type 1 13 3 0 0 0 16
Oculocutaneous albinism type 1 5 11 0 0 0 16
Tyrosinemia type I 6 10 0 0 0 16
Cockayne syndrome type 1 2 13 0 0 0 15
Hereditary fructosuria 3 9 3 0 0 15
Hypophosphatasia 2 12 1 0 0 15
Mucopolysaccharidosis, MPS-III-A 4 10 1 0 0 15
Neuronal ceroid lipofuscinosis 7 8 0 0 0 15
Pyknodysostosis 1 14 0 0 0 15
Rhizomelic chondrodysplasia punctata type 1 2 13 0 0 0 15
Asphyxiating thoracic dystrophy 3 7 7 0 0 0 14
Biotinidase deficiency 7 6 1 0 0 14
Citrullinemia type I 2 11 1 0 0 14
Deficiency of hydroxymethylglutaryl-CoA lyase 3 9 2 0 0 14
Niemann-Pick disease, type C2 0 13 1 0 0 14
Alkaptonuria 3 10 0 0 0 13
Arginase deficiency 2 11 0 0 0 13
Mucolipidosis type IV 1 12 0 0 0 13
Myopathy caused by variation in FKTN 0 13 0 0 0 13
Primary hyperoxaluria, type II 1 12 0 0 0 13
Sialic acid storage disease, severe infantile type 0 13 0 0 0 13
Autosomal recessive limb-girdle muscular dystrophy type 2D 3 8 1 0 0 12
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 7 5 0 0 0 12
Methylmalonic aciduria, cblA type 1 11 0 0 0 12
Methylmalonic aciduria, cblB type 9 3 0 0 0 12
Mucopolysaccharidosis, MPS-III-B 2 10 0 0 0 12
Tumor predisposition syndrome 2 10 2 0 0 0 12
BCS1L-related disorder 2 8 1 0 0 11
Mucopolysaccharidosis, MPS-II 1 10 0 0 0 11
Ornithine carbamoyltransferase deficiency 3 8 0 0 0 11
Adrenoleukodystrophy 2 8 0 0 0 10
Congenital myasthenic syndrome 5 5 0 0 0 10
Deficiency of butyryl-CoA dehydrogenase 1 9 0 0 0 10
GNPTG-mucolipidosis 0 9 1 0 0 10
Neuronal ceroid lipofuscinosis 3 0 9 1 0 0 10
Spongy degeneration of central nervous system 4 6 0 0 0 10
Bardet-Biedl syndrome 10 5 1 3 0 0 9
Choroideremia 2 7 0 0 0 9
Cobalamin C disease 1 7 1 0 0 9
Gaucher disease type I 6 3 0 0 0 9
Neuronal ceroid lipofuscinosis 1 4 5 0 0 0 9
Tyrosinemia type II 0 9 0 0 0 9
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 8 0 0 0 0 8
Cystinosis 2 6 0 0 0 8
ERCC2-related disorder 3 5 0 0 0 8
Familial hemophagocytic lymphohistiocytosis 2 4 4 0 0 0 8
POLG-related disorder 2 6 0 0 0 8
Carnitine palmitoyltransferase II deficiency 2 4 1 0 0 7
Ehlers-Danlos syndrome due to tenascin-X deficiency 7 0 0 0 0 7
Hereditary insensitivity to pain with anhidrosis 6 1 0 0 0 7
Juvenile retinoschisis 4 3 0 0 0 7
Mitochondrial DNA depletion syndrome 1 7 0 0 0 0 7
Nonsyndromic genetic hearing loss 1 6 0 0 0 7
RPE65-related recessive retinopathy 4 3 0 0 0 7
Autosomal recessive limb-girdle muscular dystrophy type 2C 0 5 1 0 0 6
Autosomal recessive limb-girdle muscular dystrophy type 2E 2 4 0 0 0 6
Autosomal recessive polycystic kidney disease 6 0 0 0 0 6
BBS2-related ciliopathy 0 6 0 0 0 6
Deficiency of mevalonate kinase 2 4 0 0 0 6
Enhanced S-cone syndrome 4 2 0 0 0 6
Fabry disease 1 5 0 0 0 6
Familial isolated deficiency of vitamin E 3 3 0 0 0 6
Glycogen storage disease, type IV 3 3 0 0 0 6
Glycogen storage disease, type V 1 5 0 0 0 6
Hereditary factor IX deficiency disease 1 5 0 0 0 6
Multiple sulfatase deficiency 1 5 0 0 0 6
Phytanic acid storage disease 0 6 0 0 0 6
Pontocerebellar hypoplasia type 2D 4 2 0 0 0 6
Usher syndrome type 1F 3 3 0 0 0 6
X-linked severe combined immunodeficiency 0 6 0 0 0 6
Xeroderma pigmentosum, group C 2 3 1 0 0 6
3-methylcrotonyl-CoA carboxylase 2 deficiency 2 3 0 0 0 5
Aspartylglucosaminuria 2 3 0 0 0 5
Deficiency of acetyl-CoA acetyltransferase 1 4 0 0 0 5
Deficiency of butyrylcholinesterase 1 4 0 0 0 5
Familial Mediterranean fever 4 1 0 0 0 5
Familial ovarian cancer 2 3 0 0 0 5
Glycine encephalopathy 1 0 5 0 0 0 5
Mucopolysaccharidosis type 1 2 3 0 0 0 5
Neuronal ceroid lipofuscinosis 5 4 1 0 0 0 5
Primary hyperoxaluria type 3 2 3 0 0 0 5
Retinitis pigmentosa 26 4 1 0 0 0 5
Retinitis pigmentosa 28 5 0 0 0 0 5
Rhabdoid tumor predisposition syndrome 2 2 0 0 1 2 5
Tyrosinase-positive oculocutaneous albinism 3 2 0 0 0 5
Vitamin D-dependent rickets, type 1A 1 4 0 0 0 5
3MC syndrome 2 3 1 0 0 0 4
Achondrogenesis, type IB 3 1 0 0 0 4
Aicardi-Goutieres syndrome 2 2 2 0 0 0 4
Diastrophic dysplasia 3 1 0 0 0 4
Dihydropyrimidine dehydrogenase deficiency 2 2 0 0 0 4
Glucose-6-phosphate transport defect 2 2 0 0 0 4
Homocystinuria due to methylene tetrahydrofolate reductase deficiency 2 2 0 0 0 4
Joubert syndrome and related disorders 1 3 0 0 0 4
Maple syrup urine disease type 1A 0 4 0 0 0 4
Multiple epiphyseal dysplasia type 4 3 1 0 0 0 4
Myopathy caused by variation in FKRP 2 2 0 0 0 4
Myopathy caused by variation in POMGNT1 1 3 0 0 0 4
Niemann-Pick disease, type A 4 0 0 0 0 4
Ornithine aminotransferase deficiency 2 2 0 0 0 4
Renal tubular acidosis with progressive nerve deafness 2 2 0 0 0 4
Xeroderma pigmentosum group A 2 2 0 0 0 4
Alpha-1-antitrypsin deficiency 1 2 0 0 0 3
Autosomal recessive limb-girdle muscular dystrophy type 2F 2 1 0 0 0 3
Autosomal recessive spinocerebellar ataxia 10 3 0 0 0 0 3
Carnitine palmitoyl transferase II deficiency, severe infantile form 3 0 0 0 0 3
Glycine encephalopathy 2 1 2 0 0 0 3
Glycogen storage disease, type I 3 0 0 0 0 3
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 0 3 0 0 0 3
Hermansky-Pudlak syndrome 1 2 1 0 0 0 3
Infantile hypophosphatasia 2 1 0 0 0 3
Interstitial lung disease due to ABCA3 deficiency 0 3 0 0 0 3
Pituitary hormone deficiency, combined, 2 2 1 0 0 0 3
Retinoblastoma 0 0 0 0 3 3
SLC26A2-related skeletal dysplasia 2 1 0 0 0 3
Bardet-Biedl syndrome 12 2 0 0 0 0 2
Biotin-responsive basal ganglia disease 2 0 0 0 0 2
Cockayne spectrum with or without cerebrooculofacioskeletal syndrome 2 0 0 0 0 2
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 0 2 0 0 0 2
Dyskeratosis congenita, autosomal recessive 5 2 0 0 0 0 2
GRACILE syndrome 2 0 0 0 0 2
Hemochromatosis type 1 2 0 0 0 0 2
Hurler syndrome 2 0 0 0 0 2
Hyperinsulinemic hypoglycemia, familial, 2 1 1 0 0 0 2
Joubert syndrome 3 1 1 0 0 0 2
Maple syrup urine disease type 1B 2 0 0 0 0 2
Maple syrup urine disease type 2 0 2 0 0 0 2
Myopathy, lactic acidosis, and sideroblastic anemia 1 0 2 0 0 0 2
Nephropathic cystinosis 1 1 0 0 0 2
Peroxisome biogenesis disorder 1A (Zellweger) 2 0 0 0 0 2
Peroxisome biogenesis disorder 3A (Zellweger) 2 0 0 0 0 2
RAPSN-related disorder 1 1 0 0 0 2
Recombinase activating gene 2 deficiency 2 0 0 0 0 2
Spondylocostal dysostosis 2, autosomal recessive 1 1 0 0 0 2
Trimethylaminuria 0 2 0 0 0 2
VPS13A-related neurodegenerative disease 1 1 0 0 0 2
3-Methylglutaconic aciduria type 3 1 0 0 0 0 1
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 0 1 0 0 0 1
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 0 1 0 0 0 1
Ataxia-telangiectasia syndrome 0 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2I 1 0 0 0 0 1
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 1 0 0 0 0 1
Congenital amegakaryocytic thrombocytopenia 1 0 1 0 0 0 1
Donnai-Barrow syndrome 0 1 0 0 0 1
ENHANCED S-CONE SYNDROME 1 1 0 0 0 0 1
Hereditary spastic paraplegia 49 1 0 0 0 0 1
Hydrolethalus syndrome 1 1 0 0 0 0 1
Intellectual disability, X-linked, with or without seizures, ARX-related 1 0 0 0 0 1
Joubert syndrome 2 1 0 0 0 0 1
Meckel syndrome, type 1 1 0 0 0 0 1
Metaphyseal chondrodysplasia, McKusick type 1 0 0 0 0 1
Microcephaly 1, primary, autosomal recessive 0 1 0 0 0 1
Microphthalmia, isolated, with coloboma 3 1 0 0 0 0 1
Mitochondrial complex I deficiency, nuclear type 1 0 1 0 0 0 1
Multiple endocrine neoplasia type 2B 1 0 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 1 0 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 1 0 0 0 0 1
Neurometabolic disorder due to serine deficiency 0 1 0 0 0 1
Neuronal ceroid lipofuscinosis 8 0 0 1 0 0 1
Peroxisome biogenesis disorder 1B 1 0 0 0 0 1
Peroxisome biogenesis disorder 5A (Zellweger) 1 0 0 0 0 1
Peroxisome biogenesis disorder type 3B 1 0 0 0 0 1
Pontocerebellar hypoplasia type 1A 0 1 0 0 0 1
Primary ciliary dyskinesia 9 1 0 0 0 0 1
Pseudo-Hurler polydystrophy 1 0 0 0 0 1
RPGR-related retinopathy 1 0 0 0 0 1
Retinitis pigmentosa 59 1 0 0 0 0 1
Salla disease 1 0 0 0 0 1
Usher syndrome type 3 1 0 0 0 0 1
Usher syndrome type 3A 0 0 1 0 0 1
alpha Thalassemia 1 0 0 0 0 1

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